mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NCS1
Gene summary
Basic gene Info.Gene symbolNCS1
Gene nameneuronal calcium sensor 1
SynonymsFLUP|FREQ
CytomapUCSC genome browser: 9q34
Type of geneprotein-coding
RefGenesNM_001128826.1,
NM_014286.3,
Descriptionfrequenin homologfrequenin-like proteinfrequenin-like ubiquitous protein
Modification date20141207
dbXrefs MIM : 603315
HGNC : HGNC
Ensembl : ENSG00000107130
HPRD : 04500
Vega : OTTHUMG00000020801
ProteinUniProt: P62166
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NCS1
BioGPS: 23413
PathwayNCI Pathway Interaction Database: NCS1
KEGG: NCS1
REACTOME: NCS1
Pathway Commons: NCS1
ContextiHOP: NCS1
ligand binding site mutation search in PubMed: NCS1
UCL Cancer Institute: NCS1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for NCS1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y115I116MHNSC1
D111D111NLUSC1
W103F105COV1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NCS1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
D111D111N-0.86437253
W103F105C-0.85906743
Y115I116M-0.37015459
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NCS1 from PDB

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Differential gene expression and gene-gene network for NCS1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NCS1 and the right PPI network was created from samples without mutations in the LBS of NCS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NCS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NCS1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NCS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1g8iAD111 Y115
CACALCIUM(2+)1g8iBD111 Y115
CACALCIUM(2+)2lcpAD111 Y115
CACALCIUM(2+)4gukAD111 Y115
CACALCIUM(2+)4gukBD111 Y115
CACALCIUM(2+)4gukDD111 Y115
P2GGUANOSINE-2',3'-O-METHYLIDENEPHOSPHONATE4gukBW103


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Conservation information for LBS of NCS1
Multiple alignments for P62166 in multiple species
LBSAA sequence# speciesSpecies
A182PSIVQALSLYD4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
A182PSIIGALNLYD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A182PTIVSALSLYD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A182PSIVHALSLYE1Caenorhabditis elegans
A182PRIVQALSLGG1Drosophila melanogaster
D109AFKLYDLDNDG4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D109AFELYDLNHDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D109AFQLYDLDNNG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D109AFKLYDLDQDG1Caenorhabditis elegans
D109AFRLYDVDNDG1Drosophila melanogaster
D111KLYDLDNDGYI4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D111ELYDLNHDGYI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D111QLYDLDNNGLI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D111KLYDLDQDGFI1Caenorhabditis elegans
D111RLYDVDNDGYI1Drosophila melanogaster
D113YDLDNDGYITR4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D113YDLNHDGYITF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D113YDLDNNGLISY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D113YDLDQDGFITR1Caenorhabditis elegans
D113YDVDNDGYITR1Drosophila melanogaster
D157IFAMMDKNADG4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D157IFKLMDKNEDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D157IFNMMDKNKDG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D157IFRMMDKNNDA1Caenorhabditis elegans
D157IFDQMDKNHDG1Drosophila melanogaster
D161MDKNADGKLTL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D161MDKNEDGYITL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D161MDKNKDGQLTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D161MDKNNDAQLTL1Caenorhabditis elegans
D161MDKNHDGKLTL1Drosophila melanogaster
D73VFNVFDENKDG4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D73LFTVFDKDNNG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D73VFNVFDADKNG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D73VFKVFDENKDG1Caenorhabditis elegans
D73VFRVFDENNDG1Drosophila melanogaster
D77FDENKDGRIEF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
D77FDKDNNGFIHF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D77FDADKNGYIDF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D77FDENKDGAIEF1Caenorhabditis elegans
D77FDENNDGSIEF1Drosophila melanogaster
E120YITRNEMLDIV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E120YITFDEMLTIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E120LISYDEMLRIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E120FITRNEMLSIV1Caenorhabditis elegans
E120YITREEMYNIV1Drosophila melanogaster
E168KLTLQEFQEGS4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E168YITLDEFREGS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E168QLTLEEFCEGS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E168QLTLEEFKEGA1Caenorhabditis elegans
E168KLTLEEFREGS1Drosophila melanogaster
E81KDGRIEFSEFI4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E81NNGFIHFEEFI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E81KNGYIDFKEFI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E81KDGAIEFHEFI1Caenorhabditis elegans
E81NDGSIEFEEFI1Drosophila melanogaster
E84RIEFSEFIQAL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
E84FIHFEEFITVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E84YIDFKEFICAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E84AIEFHEFIRAL1Caenorhabditis elegans
E84SIEFEEFIRAL1Drosophila melanogaster
I80NKDGRIEFSEF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
I80DNNGFIHFEEF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I80DKNGYIDFKEF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I80NKDGAIEFHEF1Caenorhabditis elegans
I80NNDGSIEFEEF1Drosophila melanogaster
K100GTLDEKLRWAF4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
K100GTLEEKLSWAF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K100GELNDKLIWAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K100GNLDEKLHWAF1Caenorhabditis elegans
K100GNLDEKLQWAF1Drosophila melanogaster
K163KNADGKLTLQE4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
K163KNEDGYITLDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K163KNKDGQLTLEE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K163KNNDAQLTLEE1Caenorhabditis elegans
K163KNHDGKLTLEE1Drosophila melanogaster
L185VQALSLYDGLV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
L185IGALNLYDGLI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L185VSALSLYDGLV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L185VHALSLYEGLS1Caenorhabditis elegans
L185VQALSLGGG--1Drosophila melanogaster
L8KSNSKLKPEVV4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
L8AKTSKLSKDDL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L8KSQSKLSQDQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L8KGNSKLKSSQI1Caenorhabditis elegans
L8KKSSKLKQDTI1Drosophila melanogaster
N112LYDLDNDGYIT4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
N112LYDLNHDGYIT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N112LYDLDNNGLIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N112LYDLDQDGFIT1Caenorhabditis elegans
N112LYDVDNDGYIT1Drosophila melanogaster
N159AMMDKNADGKL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
N159KLMDKNEDGYI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N159NMMDKNKDGQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N159RMMDKNNDAQL1Caenorhabditis elegans
N159DQMDKNHDGKL1Drosophila melanogaster
N75NVFDENKDGRI4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
N75TVFDKDNNGFI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N75NVFDADKNGYI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N75KVFDENKDGAI1Caenorhabditis elegans
N75RVFDENNDGSI1Drosophila melanogaster
R79ENKDGRIEFSE4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
R79KDNNGFIHFEE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R79ADKNGYIDFKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R79ENKDGAIEFHE1Caenorhabditis elegans
R79ENNDGSIEFEE1Drosophila melanogaster
S184IVQALSLYDGL4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
S184IIGALNLYDGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S184IVSALSLYDGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S184IVHALSLYEGL1Caenorhabditis elegans
S184IVQALSLGGG-1Drosophila melanogaster
W103DEKLRWAFKLY4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
W103EEKLSWAFELY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W103NDKLIWAFQLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W103DEKLHWAFKLY1Caenorhabditis elegans
W103DEKLQWAFRLY1Drosophila melanogaster
Y115LDNDGYITRNE4Homo sapiens, Mus musculus, Rattus norvegicus, Gallus gallus
Y115LNHDGYITFDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y115LDNNGLISYDE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y115LDQDGFITRNE1Caenorhabditis elegans
Y115VDNDGYITREE1Drosophila melanogaster


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